Phenotypic heterogeneity and mosaicism in Xia-Gibbs syndrome: Five Danish patients with novel variants in AHDC1

Soren L Faergeman, Anders B Bojesen, Maria Rasmussen, Naja Becher, Lotte Andreasen, Brian N Andersen, Emilie Erbs, Dorte L Lildballe, Jens Erik K Nielsen, Monica Zilmer, Trine Bjørg Hammer, Mikkel Ø Andersen, Charlotte Brasch-Andersen, Christina R Fagerberg, Niels O Illum, Mette B Thorup, Pernille A Gregersen

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Abstrakt

Xia-Gibbs syndrome (XGS) is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, obstructive sleep apnoea and mild facial dysmorphism. Heterozygosity for loss-of-function variants in AHDC1, encoding the AT-hook DNA binding motif containing protein 1, were discovered in 2014 as the likely genetic cause of Xia-Gibbs syndrome. We present five patients with Xia-Gibbs syndrome caused by previously unreported variants in AHDC1. Two of the patients share a frameshift variant: c.2849del (p.(Pro950Argfs*192)) in AHDC1. Despite sharing this variant, the two patients show remarkable phenotypic differences underscoring the clinical heterogeneity of Xia-Gibbs syndrome. In addition, we present a case of Xia-Gibbs syndrome caused by mosaicism for an AHDC1 variant.

OriginalsprogEngelsk
Artikelnummer104280
TidsskriftEuropean Journal of Medical Genetics
Vol/bind64
Udgave nummer9
Tidlig onlinedato3 jul. 2021
DOI
StatusUdgivet - sep. 2021

Bibliografisk note

Copyright © 2021. Published by Elsevier Masson SAS.

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